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Q9NNX1

- TUFT1_HUMAN

UniProt

Q9NNX1 - TUFT1_HUMAN

Protein

Tuftelin

Gene

TUFT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Involved in the mineralization and structural organization of enamel.

    GO - Molecular functioni

    1. structural constituent of tooth enamel Source: UniProtKB

    GO - Biological processi

    1. bone mineralization Source: UniProtKB
    2. odontogenesis Source: UniProtKB

    Keywords - Biological processi

    Biomineralization

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tuftelin
    Gene namesi
    Name:TUFT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:12422. TUFT1.

    Subcellular locationi

    Secreted By similarity
    Note: Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: LIFEdb
    2. extracellular region Source: UniProtKB

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37084.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 390390TuftelinPRO_0000183186Add
    BLAST

    Proteomic databases

    MaxQBiQ9NNX1.
    PaxDbiQ9NNX1.
    PRIDEiQ9NNX1.

    PTM databases

    PhosphoSiteiQ9NNX1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NNX1.
    BgeeiQ9NNX1.
    CleanExiHS_TUFT1.
    GenevestigatoriQ9NNX1.

    Organism-specific databases

    HPAiHPA028112.

    Interactioni

    Subunit structurei

    Interacts with TFIP11.By similarity

    Protein-protein interaction databases

    BioGridi113137. 6 interactions.
    IntActiQ9NNX1. 5 interactions.
    MINTiMINT-4716691.
    STRINGi9606.ENSP00000357842.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NNX1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili88 – 12639Sequence AnalysisAdd
    BLAST
    Coiled coili162 – 351190Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the tuftelin family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG40140.
    HOVERGENiHBG056992.
    InParanoidiQ9NNX1.
    OrthoDBiEOG7CZK5X.
    PhylomeDBiQ9NNX1.
    TreeFamiTF331627.

    Family and domain databases

    InterProiIPR024846. Tuftelin.
    [Graphical view]
    PANTHERiPTHR23171:SF4. PTHR23171:SF4. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NNX1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT    50
    YAMVSSHSAG HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK 100
    SEVQYIQEAR NCLQKLREDI SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS 150
    PTALYSSPPE VDTCINEDVE SLRKTVQDLL AKLQEAKRQH QSDCVAFEVT 200
    LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME TEHQALLAKV 250
    REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR 300
    KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK 350
    QISHGNFSTQ ARAKTENPGS IRISKPPSPK PMPVIRVVET 390
    Length:390
    Mass (Da):44,264
    Last modified:October 1, 2000 - v1
    Checksum:i332AF3C06665E8D0
    GO
    Isoform 2 (identifier: Q9NNX1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         21-45: Missing.

    Show »
    Length:365
    Mass (Da):41,546
    Checksum:i3A12985BF4AC3033
    GO
    Isoform 3 (identifier: Q9NNX1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         21-79: Missing.

    Show »
    Length:331
    Mass (Da):37,929
    Checksum:i9F858A5CE5FBB30A
    GO

    Sequence cautioni

    The sequence BAB15615.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti244 – 2441Q → R in BAB15615. (PubMed:14702039)Curated
    Sequence conflicti329 – 3291K → T in BAB15615. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181Q → R.
    Corresponds to variant rs3828054 [ dbSNP | Ensembl ].
    VAR_052424
    Natural varianti296 – 2961K → R.
    Corresponds to variant rs16833395 [ dbSNP | Ensembl ].
    VAR_034574

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei21 – 7959Missing in isoform 3. 1 PublicationVSP_006686Add
    BLAST
    Alternative sequencei21 – 4525Missing in isoform 2. 3 PublicationsVSP_006685Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF254860
    , AF254850, AF254851, AF254852, AF254854, AF254855, AF254856, AF254857, AF254858, AF254859 Genomic DNA. Translation: AAF78914.1.
    AF254260 mRNA. Translation: AAF78913.1.
    AL136917 mRNA. Translation: CAB66851.1.
    AK026989 mRNA. Translation: BAB15615.1. Different initiation.
    AK075001 mRNA. Translation: BAC11346.1.
    AK315414 mRNA. Translation: BAG37804.1.
    AL365436 Genomic DNA. Translation: CAI16591.1.
    AL365436 Genomic DNA. Translation: CAI16592.1.
    CH471121 Genomic DNA. Translation: EAW53429.1.
    CH471121 Genomic DNA. Translation: EAW53430.1.
    CH471121 Genomic DNA. Translation: EAW53431.1.
    CH471121 Genomic DNA. Translation: EAW53433.1.
    BC002933 mRNA. Translation: AAH02933.1.
    BC008301 mRNA. Translation: AAH08301.1.
    CCDSiCCDS1000.1. [Q9NNX1-1]
    CCDS44223.1. [Q9NNX1-2]
    RefSeqiNP_001119809.1. NM_001126337.1. [Q9NNX1-2]
    NP_064512.1. NM_020127.2. [Q9NNX1-1]
    UniGeneiHs.489922.

    Genome annotation databases

    EnsembliENST00000353024; ENSP00000343781; ENSG00000143367. [Q9NNX1-3]
    ENST00000368848; ENSP00000357841; ENSG00000143367. [Q9NNX1-2]
    ENST00000368849; ENSP00000357842; ENSG00000143367. [Q9NNX1-1]
    GeneIDi7286.
    KEGGihsa:7286.
    UCSCiuc001eyl.3. human. [Q9NNX1-1]
    uc001eym.3. human. [Q9NNX1-2]

    Polymorphism databases

    DMDMi22096213.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF254860
    , AF254850 , AF254851 , AF254852 , AF254854 , AF254855 , AF254856 , AF254857 , AF254858 , AF254859 Genomic DNA. Translation: AAF78914.1 .
    AF254260 mRNA. Translation: AAF78913.1 .
    AL136917 mRNA. Translation: CAB66851.1 .
    AK026989 mRNA. Translation: BAB15615.1 . Different initiation.
    AK075001 mRNA. Translation: BAC11346.1 .
    AK315414 mRNA. Translation: BAG37804.1 .
    AL365436 Genomic DNA. Translation: CAI16591.1 .
    AL365436 Genomic DNA. Translation: CAI16592.1 .
    CH471121 Genomic DNA. Translation: EAW53429.1 .
    CH471121 Genomic DNA. Translation: EAW53430.1 .
    CH471121 Genomic DNA. Translation: EAW53431.1 .
    CH471121 Genomic DNA. Translation: EAW53433.1 .
    BC002933 mRNA. Translation: AAH02933.1 .
    BC008301 mRNA. Translation: AAH08301.1 .
    CCDSi CCDS1000.1. [Q9NNX1-1 ]
    CCDS44223.1. [Q9NNX1-2 ]
    RefSeqi NP_001119809.1. NM_001126337.1. [Q9NNX1-2 ]
    NP_064512.1. NM_020127.2. [Q9NNX1-1 ]
    UniGenei Hs.489922.

    3D structure databases

    ProteinModelPortali Q9NNX1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113137. 6 interactions.
    IntActi Q9NNX1. 5 interactions.
    MINTi MINT-4716691.
    STRINGi 9606.ENSP00000357842.

    PTM databases

    PhosphoSitei Q9NNX1.

    Polymorphism databases

    DMDMi 22096213.

    Proteomic databases

    MaxQBi Q9NNX1.
    PaxDbi Q9NNX1.
    PRIDEi Q9NNX1.

    Protocols and materials databases

    DNASUi 7286.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000353024 ; ENSP00000343781 ; ENSG00000143367 . [Q9NNX1-3 ]
    ENST00000368848 ; ENSP00000357841 ; ENSG00000143367 . [Q9NNX1-2 ]
    ENST00000368849 ; ENSP00000357842 ; ENSG00000143367 . [Q9NNX1-1 ]
    GeneIDi 7286.
    KEGGi hsa:7286.
    UCSCi uc001eyl.3. human. [Q9NNX1-1 ]
    uc001eym.3. human. [Q9NNX1-2 ]

    Organism-specific databases

    CTDi 7286.
    GeneCardsi GC01P151513.
    HGNCi HGNC:12422. TUFT1.
    HPAi HPA028112.
    MIMi 600087. gene.
    neXtProti NX_Q9NNX1.
    PharmGKBi PA37084.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40140.
    HOVERGENi HBG056992.
    InParanoidi Q9NNX1.
    OrthoDBi EOG7CZK5X.
    PhylomeDBi Q9NNX1.
    TreeFami TF331627.

    Miscellaneous databases

    ChiTaRSi TUFT1. human.
    GeneWikii Tuftelin.
    GenomeRNAii 7286.
    NextBioi 28487.
    PROi Q9NNX1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NNX1.
    Bgeei Q9NNX1.
    CleanExi HS_TUFT1.
    Genevestigatori Q9NNX1.

    Family and domain databases

    InterProi IPR024846. Tuftelin.
    [Graphical view ]
    PANTHERi PTHR23171:SF4. PTHR23171:SF4. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Uterus.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Hepatoma and Tongue.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Kidney and Placenta.
    7. "Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization."
      Deutsch D., Palmon A., Young M.F., Selig S., Kearns W.G., Fisher L.W.
      Mamm. Genome 5:461-462(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].

    Entry informationi

    Entry nameiTUFT1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NNX1
    Secondary accession number(s): B2RD57
    , D3DV21, D3DV22, Q5T384, Q5T385, Q9BU28, Q9H5L1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 2, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 107 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3